A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046423



Internal ID18788954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110283757..110634260hg38UCSC Ensembl
Innerchr13:110936104..111286607hg19UCSC Ensembl
Innerchr13:109734105..110084608hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38350504
hg19350504
hg18350504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3525579
Samples
Known GenesCARKD, COL4A1, COL4A2, COL4A2-AS1, MIR8073, RAB20
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046423
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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